The most common recurrent copy-number variants associated with autism, developmental delay and epilepsy are flanked by segmental duplications. Complete genetic characterization of these events is ...

As part of recent completion of first complete, gapless sequence of a human genome by Telomere- to-Telomere consortium, researchers at UW Medicine offered first comprehensive view of highly identical, ...

Researchers have created the first evolutionary history of the duplications in the human genome that are partly responsible for both disease and recent genetic innovations. This work marks a ...

(PhysOrg.com) -- A newly designed computational method has proven its usefulness in counting copies of duplicated genome sequences and in doing initial assessments of their contents, according to a ...

Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution: Human segmental duplications are hotspots for nonallelic homologous recombination leading to ...

Short-read next-generation sequencing (NGS) transformed genomics by delivering billions of accurate reads at low cost, but a fundamental constraint remains: a read shorter than the feature being ...